chr12:53991774:T>G Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:54,385,558-54,385,558 View the variant detail on this assembly version. |
| hg38 | chr12:53,991,774-53,991,774 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | breast carcinoma | Our study aimed to evaluate the possible association between four miRNA polymorp... | BeFree | 24521023 | Detail |
| 0.004 | breast carcinoma | Our study aimed to evaluate the possible association between four miRNA polymorp... | BeFree | 24521023 | Detail |
| 0.003 | Malignant neoplasm of breast | Our study aimed to evaluate the possible association between four miRNA polymorp... | BeFree | 24521023 | Detail |
| 0.008 | Malignant neoplasm of breast | Our study aimed to evaluate the possible association between four miRNA polymorp... | BeFree | 24521023 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Our study aimed to evaluate the possible association between four miRNA polymorphisms, hsa-miR-146a ... | DisGeNET | Detail |
| Our study aimed to evaluate the possible association between four miRNA polymorphisms, hsa-miR-146a ... | DisGeNET | Detail |
| Our study aimed to evaluate the possible association between four miRNA polymorphisms, hsa-miR-146a ... | DisGeNET | Detail |
| Our study aimed to evaluate the possible association between four miRNA polymorphisms, hsa-miR-146a ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr12:53,991,774-53,991,774
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 7976
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.2537612838515547E-4
- Chromosome Counts in All Race (ExAC)
- 100266
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 9.973470568288353E-6
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